Research & Literature

Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.

Brehm A, Liu Y, Sheikh A, et al.

The Journal of clinical investigation 2015; (125(11)):4196-211.

CANDLE syndrome: chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature-a rare case with a novel mutation.

Cavalcante MP, Brunelli JB, Miranda CC, et al.

European journal of pediatrics 2016; (175(5)):735-40 doi:10.1007/s00431-015-2668-4.

The Safety and Immunogenicity of Live Zoster Vaccination in Patients With Rheumatoid Arthritis Before Starting Tofacitinib: A Randomized Phase II Trial.

Winthrop KL, Wouters AG, Choy EH, et al.

Arthritis & rheumatology (Hoboken, N.J.) 2017; (69(10)):1969-1977 doi:10.1002/art.40187.

Development of a Validated Interferon Score Using NanoString Technology.

Kim H, de Jesus AA, Brooks SR, et al.

Journal of interferon & cytokine research : the official journal of the International Society for Interferon and Cytokine Research 2018; (38(4)):171-185 doi:10.1089/jir.2017.0127.

JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies.

Sanchez GAM, Reinhardt A, Ramsey S, et al.

The Journal of clinical investigation 2018; (128(7)):3041-3052.

Pluripotent Stem Cell Model of Nakajo-Nishimura Syndrome Untangles Proinflammatory Pathways Mediated by Oxidative Stress.

Honda-Ozaki F, Terashima M, Niwa A, et al.

Stem cell reports 2018; (10(6)):1835-1850 doi:10.1016/j.stemcr.2018.04.004.

Vasculitis in Systemic Autoinflammatory Diseases.

Demir S, Sag E, Dedeoglu F, Ozen S

Frontiers in pediatrics 2018; (6()):377 doi:10.3389/fped.2018.00377.

Disease course and treatment effects of a JAK inhibitor in a patient with CANDLE syndrome.

Boyadzhiev M, Marinov L, Boyadzhiev V, et al.

Pediatric rheumatology online journal 2019; (17(1)):19 doi:10.1186/s12969-019-0322-9.

Glucocorticoid induced osteoporosis.

Hu K, Adachi JD

Expert review of endocrinology & metabolism 2019; (14(4)):259-266 doi:10.1080/17446651.2019.1617131.

Induced pluripotent stem cells representing Nakajo-Nishimura syndrome.

Kanazawa N, Honda-Ozaki F, Saito MK

Inflammation and regeneration 2019; (39()):11 doi:10.1186/s41232-019-0099-8.

Clinical characteristics and genetic analyses of 187 patients with undefined autoinflammatory diseases.

Ter Haar NM, Eijkelboom C, Cantarini L, et al.

Annals of the rheumatic diseases 2019; (78(10)):1405-1411 doi:10.1136/annrheumdis-2018-214472.

Nakajo-Nishimura syndrome and related proteasome-associated autoinflammatory syndromes.

Ohmura K

Journal of inflammation research 2019; (12()):259-265 doi:10.2147/JIR.S194098.

Symptomatic elevation creatine kinase following treatment of rheumatoid arthritis with baricitinib.

Anjara P, Jiang M, Mundae M

Clinical rheumatology 2020; (39(2)):613-614 doi:10.1007/s10067-019-04833-6.

Contribution of the Unfolded Protein Response (UPR) to the Pathogenesis of Proteasome-Associated Autoinflammatory Syndromes (PRAAS).

Ebstein F, Poli Harlowe MC, Studencka-Turski M, Krüger E

Frontiers in immunology 2019; (10()):2756 doi:10.3389/fimmu.2019.02756.

Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases.

de Jesus AA, Hou Y, Brooks S, et al.

The Journal of clinical investigation 2020; (130(4)):1669-1682.

Myositis with sarcoplasmic inclusions in Nakajo-Nishimura syndrome: a genetic inflammatory myopathy.

Ayaki T, Murata K, Kanazawa N, et al.

Neuropathology and applied neurobiology 2020; (46(6)):579-587 doi:10.1111/nan.12614.

ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era.

Shinar Y, Ceccherini I, Rowczenio D, et al.

Clinical chemistry 2020; (66(4)):525-536 doi:10.1093/clinchem/hvaa024.

A Chinese case of Nakajo-Nishimura syndrome with novel compound heterozygous mutations of the PSMB8 gene.

Jia T, Zheng Y, Feng C, et al.

BMC medical genetics 2020; (21(1)):126 doi:10.1186/s12881-020-01060-8.

Pluripotent stem cell-based screening identifies CUDC-907 as an effective compound for restoring the in vitro phenotype of Nakajo-Nishimura syndrome.

Kase N, Terashima M, Ohta A, et al.

Stem cells translational medicine 2021; (10(3)):455-464 doi:10.1002/sctm.20-0198.

Efficacy and Safety of Janus Kinase Inhibitors in Type I Interferon-Mediated Monogenic Autoinflammatory Disorders: A Scoping Review.

Gómez-Arias PJ, Gómez-García F, Hernández-Parada J, et al.

Dermatology and therapy 2021; (11(3)):733-750 doi:10.1007/s13555-021-00517-9.

Monogenic Autoinflammatory Diseases: State of the Art and Future Perspectives.

Di Donato G, d'Angelo DM, Breda L, Chiarelli F

International journal of molecular sciences 2021; (22(12)) doi:10.3390/ijms22126360.

Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency.

Kanazawa N, Hemmi H, Kinjo N, et al.

Nature communications 2021; (12(1)):6819 doi:10.1038/s41467-021-27085-y.

The occurrence timeline of steroid-induced ocular hypertension and cataract in children with systemic autoimmune diseases.

Yan H, Tan X, Yu J, et al.

International ophthalmology 2022; (42(7)):2175-2184 doi:10.1007/s10792-022-02217-5.

The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS, SAVI and AGS.

Cetin Gedik K, Lamot L, Romano M, et al.

Annals of the rheumatic diseases 2022; (81(5)):601-613 doi:10.1136/annrheumdis-2021-221814.

Protein kinase R is an innate immune sensor of proteotoxic stress via accumulation of cytoplasmic IL-24.

Davidson S, Yu CH, Steiner A, et al.

Science immunology 2022; (7(68)):eabi6763 doi:10.1126/sciimmunol.abi6763.

The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology Points to Consider for Diagnosis and Management of Autoinflammatory Type I Interferonopathies: CANDLE/PRAAS, SAVI, and AGS.

Cetin Gedik K, Lamot L, Romano M, et al.

Arthritis & rheumatology (Hoboken, N.J.) 2022; (74(5)):735-751 doi:10.1002/art.42087.

Blockade of the CXCR3/CXCL10 axis ameliorates inflammation caused by immunoproteasome dysfunction.

Sasaki Y, Arimochi H, Otsuka K, et al.

JCI insight 2022; (7(7)).

Janus Kinase Inhibitors in the Treatment of Type I Interferonopathies: A Case Series From a Single Center in China.

Li W, Wang W, Wang W, et al.

Frontiers in immunology 2022; (13()):825367 doi:10.3389/fimmu.2022.825367.

The Autoinflammatory Diseases Alliance Registry of monogenic autoinflammatory diseases.

Gaggiano C, Vitale A, Tufan A, et al.

Frontiers in medicine 2022; (9()):980679 doi:10.3389/fmed.2022.980679.

Metabolic adverse events associated with systemic corticosteroid therapy-a systematic review and meta-analysis.

Kulkarni S, Durham H, Glover L, et al.

BMJ open 2022; (12(12)):e061476 doi:10.1136/bmjopen-2022-061476.

Efficacy and safety of baricitinib in Japanese patients with autoinflammatory type I interferonopathies (NNS/CANDLE, SAVI, And AGS).

Kanazawa N, Ishii T, Takita Y, et al.

Pediatric rheumatology online journal 2023; (21(1)):38 doi:10.1186/s12969-023-00817-8.

Chronic Atypical Neutrophilic Dermatosis With Lipodystrophy and Elevated Temperature Syndrome: A Systemic Review.

Altom A, Khader SAE, Gad AG, et al.

The American Journal of dermatopathology 2023; (45(6)):355-370 doi:10.1097/DAD.0000000000002345.

Identification of eight novel proteasome variants in five unrelated cases of proteasome-associated autoinflammatory syndromes (PRAAS).

Papendorf JJ, Ebstein F, Alehashemi S, et al.

Frontiers in immunology 2023; (14()):1190104 doi:10.3389/fimmu.2023.1190104.

Nakajo-Nishimura Syndrome: The First African Case.

Ghodbane NE, Mecibah A, Merzougui Z, et al.

Mediterranean journal of rheumatology 2023; (34(2)):262-265 doi:10.31138/mjr.34.2.262.

Panniculitis: A Cardinal Sign of Autoinflammation.

Borges T, Silva S

Current rheumatology reviews 2024; (20(4)):350-360 doi:10.2174/0115733971254702231020060633.

Treatment with Janus kinase inhibitors in juvenile dermatomyositis: A review of the literature.

Sener S, Cam V, Ozen S, Batu ED

Seminars in arthritis and rheumatism 2024; (66()):152426 doi:10.1016/j.semarthrit.2024.152426.

Disease flares with baricitinib dose reductions and development of flare criteria in patients with CANDLE/PRAAS.

Cetin Gedik K, Ortega-Villa AM, Materne G, et al.

Annals of the rheumatic diseases 2024; (83(9)):1181-1188 doi:10.1136/ard-2023-225463.

A case of mother and child with CANDLE syndrome: Diagnosis and subsequent treatment with baricitinib.

Guo W, Lozeau D, Tonnesen M, et al.

Pediatric dermatology 2024; (41(6)):1162-1165 doi:10.1111/pde.15667.

Unraveling the diagnostic odyssey: stimulator of interferon gene-associated vasculopathy with onset in infancy in a 30-year-old female.

Kim HR, Lim SH, Park JS, et al.

Journal of rheumatic diseases 2024; (31(3)):182-187 doi:10.4078/jrd.2023.0075.

Multiple thoracolumbar compression fractures induced by glucocorticoid-induced osteoporosis and cachexia in a young adult female patient with systemic lupus erythematosus: a case report with a 5-year follow-up.

Fujimoto K, Akiyama T, Kakinuma K, et al.

Oxford medical case reports 2024; (2024(8)):omae089 doi:10.1093/omcr/omae089.

A de novo dominant-negative PSMB8 mutation causes severe CANDLE/PRAAS due to arrested proteasome biogenesis.

Wolfgramm S, Alehashemi S, Wendlandt M, et al.

Annals of the rheumatic diseases 2026; (85(4)):715-729 doi:10.1016/j.ard.2025.10.021.

From infection to infarction: cytomegalovirus retinitis complicated by retinal ischemia and vitreous hemorrhage in the setting of JAK inhibition - a case report.

Johnson CD, El Zein L, Yamanuha J

BMC ophthalmology 2026; (26(1)):20 doi:10.1186/s12886-025-04558-y.

Monoallelic PSMB8 variants cause PRAAS with immunodeficiency through impaired immunoproteasome assembly.

Wijngaard R, van der Made CI, Kalkan Uçar S, et al.

American journal of human genetics 2026; (113(6)):1214-1232 doi:10.1016/j.ajhg.2026.04.015.

PCR-confirmed severe geographic HSV-1 keratitis associated with systemic JAK inhibitor therapy.

Roels D, Kreps EO, Houben I, et al.

Journal of ophthalmic inflammation and infection 2026; (16(1)).

JAK inhibitor therapy in CANDLE syndrome: a systematic review of clinical outcomes in 46 patients.

Vahabi SM, Pourgholi E, Leblebici CB, et al.

European journal of pediatrics 2026; (185(8)).